| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
Show
|
| HP:0000078 | Abnormality of the genital tract | |
Show
|
| HP:0000079 | Abnormality of the urinary tract | |
Show
|
| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
Show
|
| HP:0000179 | Prominent lower lip | "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip." [HPO:curators] |
Show
|
| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
Show
|
| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
Show
|
| HP:0000358 | Posteriorly rotated ears | "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson] |
Show
|
| HP:0000410 | Mixed hearing loss | |
Show
|
| HP:0000457 | Flat nose | |
Show
|
| HP:0000475 | Broad neck | |
Show
|
| HP:0000494 | Downward slanting palpebral fissures | |
Show
|
| HP:0000535 | Sparse eyebrows | |
Show
|
| HP:0000776 | Diaphragmatic hernia | "Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period." [HPO:curators] |
Show
|
| HP:0000823 | Delayed puberty | |
Show
|
| HP:0000980 | Pallor | |
Show
|
| HP:0001155 | Abnormality of the hand | "An abnormality affecting one or both hands." [HPO:curators] |
Show
|
| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
Show
|
| HP:0001972 | Macrocytic anemia | |
Show
|
| HP:0002076 | Migraine | |
Show
|
| HP:0002098 | Respiratory distress | |
Show
|
| HP:0002488 | Acute leukemia | |
Show
|
| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
Show
|
| HP:0003593 | Early onset | |
Show
|
| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
Show
|
| HP:0008551 | Underdeveloped ears | |
Show
|
| HP:0011675 | Arrhythmia | "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] |
Show
|
| HP:0011800 | Midface retrusion | "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith] |
Show
|
| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
Show
|
| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
Show
|
